title: Aberrant and alternative splicing in skeletal system disease.
abstract: The main function of skeletal system is to support the body and help movement. A variety of factors can lead to skeletal system disease, including age, exercise, and of course genetic makeup and expression. Pre-mRNA splicing plays a crucial role in gene expression, by creating multiple protein variants with different biological functions. The recent studies show that several skeletal system diseases are related to pre-mRNA splicing. This review focuses on the relationship between pre-mRNA splicing and skeletal system disease. On the one hand, splice site mutation that leads to aberrant splicing often causes genetic skeletal system disease, like COL1A1, SEDL and LRP5. On the other hand, alternative splicing without genomic mutation may generate some marker protein isoforms, for example, FN, VEGF and CD44. Therefore, understanding the relationship between pre-mRNA splicing and skeletal system disease will aid in uncovering the mechanism of disease and contribute to the future development of gene therapy.
authors.affiliation: Key Laboratory of Biorheological Science and Technology, Ministry of Education, College of Bioengineering, Chongqing University, Chongqing 400044, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Fan
authors.forename: Liling
authors.initials: L
authors.lastname: Tang
mesh_terms: D017398:Alternative Splicing; D001847:Bone Diseases / Q000235:genetics*; D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D006801:Humans; D060492:Low Density Lipoprotein Receptor-Related Protein-5 / Q000235:genetics; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D020033:Protein Isoforms / Q000235:genetics; D012322:RNA Precursors / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D026901:Membrane Transport Proteins; D020033:Protein Isoforms; D012322:RNA Precursors; D022821:RNA Splice Sites; C120759:TRAPPC2 protein, human; D014157:Transcription Factors
keywords: Biomarker; CD44; COL1A1; EDA; FGFR3; FLS; FN; LRP5; MSC; Mutation; OI; OPS; RA; SEDL or SEDT; Skeletal system disease; Splice site; Splicing; TRAPPC2; VEGF or VEGF-A; VEGF receptor; VEGFR; alpha 1 type I collagen; cluster of differentiation 44; extra domain A; fibroblast growth factor receptor 3; fibroblast-like synoviocytes; fibronectin; lipoprotein receptor-related protein 5; mesenchymal stem cells; osteogenesis imperfect; osteoporosis-pseudoglioma syndrome; rheumatoid arthritis; spondyloepiphyseal dysplasia tarda; trafficking protein particle complex 2; vascular endothelial growth factor